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| Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability GOLD Human Mutation 36 (12), 1197-204, 2015 | 194 | 2015 |
| A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity GC Barnett, D Thompson, L Fachal, S Kerns, C Talbot, RM Elliott, ... Radiotherapy and Oncology 111 (2), 178-185, 2014 | 177 | 2014 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 150 | 2022 |
| Polygenic burden in focal and generalized epilepsies C Leu, R Stevelink, AW Smith, SB Goleva, M Kanai, L Ferguson, ... Brain, 2019 | 111 | 2019 |
| Predicting functional effects of missense variants in voltage-gated sodium and calcium channels HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ... Science translational medicine 12 (556), eaay6848, 2020 | 98 | 2020 |
| A replicated association between polymorphisms near TNFα and risk for adverse reactions to radiotherapy CJ Talbot, GA Tanteles, GC Barnett, NG Burnet, J Chang-Claude, ... British journal of cancer 107 (4), 748-753, 2012 | 91 | 2012 |
| Standardized total average toxicity score: a scale-and grade-independent measure of late radiotherapy toxicity to facilitate pooling of data from different studies GC Barnett, CML West, CE Coles, PDP Pharoah, CJ Talbot, RM Elliott, ... International Journal of Radiation Oncology* Biology* Physics 82 (3), 1065-1074, 2012 | 83 | 2012 |
| Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier … VM Nellen RG, Steijlen PM, van Steensel MA Human Mutation 38 (4), 343-356, 2017 | 64 | 2017 |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ... Brain 143 (7), 2106-2118, 2020 | 52 | 2020 |
| 7q11. 23 Microduplication: a recognizable phenotype A Dixit, S McKee, S Mansour, SG Mehta, GA Tanteles, V Anastasiadou, ... Clinical genetics 83 (2), 155-161, 2013 | 45 | 2013 |
| Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing C Aristidou, C Koufaris, A Theodosiou, M Bak, MM Mehrjouy, F Behjati, ... PLoS One 12 (1), e0169935, 2017 | 43 | 2017 |
| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 37 | 2021 |
| Classification and aetiology of birth defects GA Tanteles, M Suri Paediatrics and Child Health 17 (6), 233-243, 2007 | 31 | 2007 |
| A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder C Koufaris, A Alexandrou, GA Tanteles, V Anastasiadou, C Sismani Biomedical Reports 4 (2), 215-218, 2016 | 29 | 2016 |
| European lipodystrophy registry: background and structure J Von Schnurbein, C Adams, B Akinci, G Ceccarini, MR D’apice, ... Orphanet journal of rare diseases 15, 1-11, 2020 | 26 | 2020 |
| GnRH deficient patients with congenital hypogonadotropic hypogonadism: novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A genes in a case series and review … V Neocleous, P Fanis, M Toumba, GA Tanteles, M Schiza, F Cinarli, ... Frontiers in endocrinology 11, 550772, 2020 | 26 | 2020 |
| Open-label fosmetpantotenate, a phosphopantothenate replacement therapy in a single patient with atypical PKAN YP Christou, GA Tanteles, E Kkolou, A Ormiston, K Konstantopoulos, ... Case Reports in Neurological Medicine 2017, 2017 | 22 | 2017 |
| Variation in telangiectasia predisposing genes is associated with overall radiation toxicity GA Tanteles, RJS Murray, J Mills, J Barwell, P Chakraborti, S Chan, ... International Journal of Radiation Oncology* Biology* Physics 84 (4), 1031-1036, 2012 | 22 | 2012 |
| Association between single nucleotide polymorphisms in the DNA repair gene LIG3 and acute adverse skin reactions following radiotherapy RJS Murray, GA Tanteles, J Mills, A Perry, I Peat, A Osman, S Chan, ... Radiotherapy and Oncology 99 (2), 231-234, 2011 | 22 | 2011 |
Vassos Neocleous, PhDMolecular Geneticist, The Cyprus Institute of Neurology and GeneticsVerified email at cing.ac.cy
